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Description
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq
Specifications
Specifications
| Antigen | SMARCAL1 |
| Applications | ELISA, Western Blot |
| Classification | Polyclonal |
| Conjugate | Unconjugated |
| Description | Rabbit polyclonal antibody raised against synthetic peptide of SMARCAL1. |
| Dilution | ELISA (1:16000-1:64000) Western Blot (1:500-1:3000) The optimal working dilution should be determined by the end user. |
| Formulation | In 20mM KH2PO4, 150mM NaCl, pH 7.2 (0.01% sodium azide) |
| Gene | SMARCAL1 |
| Gene Alias | HARP/HHARP |
| Gene Symbols | SMARCAL1 |
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